Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Reccurrent myoglobinuria, autosomal recessive (9.27)
268200
LPIN1 (2p25.1)
Lipin 1 (phosphatidic acid phosphatase 1)



Recessive congenital myopathy with minicores (3.28, 3.27)
MEGF10 (5q23.2)
Multiple EGF-like-domains 10



Recessive neonatal isolated DC (10.71)
SDHA (5p15)
succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (M)



Refsum disease, adult (13.66)
266500
PHYH (10q13)
Phytanoyl-CoA 2-hydroxylase



Refsum disease, adult (13.67)
266500
PEX7 (6q21-q22)
Peroxisomal biogenesis factor 7



Restrictive cardiomyopathy, 2 (10.73)
609578
? - (10)
restrictive dermopathy (1.4, 1.14, 1.5, 10.30, 14.68, 2.18)
275210
LMNA (1q22)
Lamin A/C



Rigid spine syndrome (1.3, 5.21, 5.22, 2.14, 5.23)
602771
FHL1 (Xq26.3)
Four and a half LIM domain 1



Rigid spine syndrome (2.13, 5.3, 3.12, 3.26)
602771
SEPN1 (1p36.13)
Selenoprotein N1



Rigid spine syndrome related to FHL1 (1.3, 5.21, 5.22, 2.14, 5.23)
FHL1 (Xq26.3)
Four and a half LIM domain 1



Rigid spine syndrome related to SEPN1 (2.13, 5.3, 3.12, 3.26)
SEPN1 (1p36.13)
Selenoprotein N1



Rippling muscle disease (1.15, 6.6, 5.20, 6.7, 4.11, 10.110, 10.16)
606072
CAV3 (3p25)
Caveolin 3



Rippling muscle disease (6.5)
600332
? - (1q41)
Romano-Ward syndrome (10.118, 10.102, 7.17, 7.16, 10.122, 10.116)
192500
KCNQ1 (11p15.5)
Potassium voltage-gated channel, KQT-like subfamily, member 1